Incidental Mutation 'IGL02650:Mapre3'
ID302096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapre3
Ensembl Gene ENSMUSG00000029166
Gene Namemicrotubule-associated protein, RP/EB family, member 3
SynonymsEB3
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.589) question?
Stock #IGL02650
Quality Score
Status
Chromosome5
Chromosomal Location30814641-30866106 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30864709 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 187 (I187N)
Ref Sequence ENSEMBL: ENSMUSP00000143890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031058] [ENSMUST00000114716] [ENSMUST00000200692] [ENSMUST00000201203] [ENSMUST00000202501]
Predicted Effect probably damaging
Transcript: ENSMUST00000031058
AA Change: I202N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031058
Gene: ENSMUSG00000029166
AA Change: I202N

DomainStartEndE-ValueType
Pfam:CH 14 114 4.1e-10 PFAM
low complexity region 201 214 N/A INTRINSIC
Pfam:EB1 219 257 1.4e-17 PFAM
low complexity region 266 280 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114716
SMART Domains Protein: ENSMUSP00000110364
Gene: ENSMUSG00000038828

DomainStartEndE-ValueType
low complexity region 16 36 N/A INTRINSIC
low complexity region 84 94 N/A INTRINSIC
Pfam:DUF2359 172 638 8e-247 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200692
AA Change: I187N

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143890
Gene: ENSMUSG00000029166
AA Change: I187N

DomainStartEndE-ValueType
Pfam:CH 14 114 2.8e-12 PFAM
low complexity region 186 199 N/A INTRINSIC
Pfam:EB1 204 242 1.6e-21 PFAM
low complexity region 251 265 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201203
SMART Domains Protein: ENSMUSP00000144615
Gene: ENSMUSG00000038828

DomainStartEndE-ValueType
low complexity region 16 36 N/A INTRINSIC
low complexity region 84 94 N/A INTRINSIC
Pfam:DUF2359 217 683 6.9e-246 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201347
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202256
Predicted Effect probably benign
Transcript: ENSMUST00000202501
SMART Domains Protein: ENSMUSP00000144591
Gene: ENSMUSG00000029166

DomainStartEndE-ValueType
Pfam:CH 14 114 6.9e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202951
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in endothelial cells fail to exhibit F2r agonist-induced vascular hyper-permeability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,741,537 T586A probably benign Het
Acads G T 5: 115,112,815 T141N probably benign Het
Ankmy1 C T 1: 92,881,023 R721H probably damaging Het
Appl1 A G 14: 26,950,708 V236A possibly damaging Het
Arhgef5 C T 6: 43,272,935 Q207* probably null Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atp6v0a2 G T 5: 124,712,362 probably benign Het
Cenpf T C 1: 189,652,473 K2537E possibly damaging Het
Cox7a1 A T 7: 30,185,137 E32V possibly damaging Het
Dis3 A T 14: 99,098,785 M95K probably benign Het
Dnah5 A T 15: 28,289,047 probably benign Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Ghsr A T 3: 27,374,855 Q343L probably benign Het
Gm3252 T A 14: 4,746,353 V215E probably damaging Het
Gm9979 A G 13: 40,705,749 noncoding transcript Het
Grik2 A T 10: 49,101,235 M867K probably benign Het
Grm7 A G 6: 111,358,958 T777A probably damaging Het
Hc T A 2: 35,000,874 Q1310L possibly damaging Het
Ifi44 A G 3: 151,745,855 F205L probably damaging Het
Igkv4-86 T C 6: 68,910,633 I40V probably benign Het
Jag1 T C 2: 137,115,585 D69G possibly damaging Het
Lrch1 T C 14: 74,813,698 D333G probably damaging Het
Myo15b T C 11: 115,886,511 probably null Het
Nanos2 C T 7: 18,987,869 P89S probably damaging Het
Olfr1214 T A 2: 88,988,080 M41L probably benign Het
Parp16 G A 9: 65,233,816 V223I probably damaging Het
Rnf123 A G 9: 108,069,748 M231T probably benign Het
Suco C A 1: 161,848,753 probably benign Het
Synj1 G T 16: 90,976,696 T459N probably benign Het
Taf4b C T 18: 14,841,983 Q732* probably null Het
Tas2r102 A G 6: 132,762,210 N27S probably null Het
Tctex1d1 C A 4: 102,988,606 Q12K probably benign Het
Tll1 C T 8: 64,046,997 probably benign Het
Vmn1r168 A G 7: 23,541,491 I258V probably benign Het
Vmn2r71 T A 7: 85,624,327 M783K probably damaging Het
Vmn2r98 G A 17: 19,080,961 V742I probably benign Het
Other mutations in Mapre3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Mapre3 APN 5 30864896 missense probably benign 0.15
IGL01391:Mapre3 APN 5 30864897 missense probably damaging 1.00
capen UTSW 5 30864867 missense probably damaging 1.00
R1272:Mapre3 UTSW 5 30861888 missense probably damaging 1.00
R1298:Mapre3 UTSW 5 30864867 missense probably damaging 1.00
R1447:Mapre3 UTSW 5 30861807 splice site probably benign
R1524:Mapre3 UTSW 5 30861917 missense probably damaging 0.99
R2006:Mapre3 UTSW 5 30861824 missense probably damaging 1.00
R2086:Mapre3 UTSW 5 30863202 critical splice acceptor site probably null
R5864:Mapre3 UTSW 5 30863238 missense probably damaging 1.00
R6630:Mapre3 UTSW 5 30862542 missense probably damaging 0.98
Posted On2015-04-16